Genetic testing for HP is currently available both on a research and commercial basis.
Commercial testing is conducted through a licensed laboratory for a specified fee that may be covered by your insurance plan. A small blood sample is drawn at your doctor’s office or hospital laboratory and sent to the commercial laboratory for testing. Results are then provided to your referring physician or counsellor. One commercial laboratory that provides testing for HP is Molecular Diagnostics at the University of Pittsburgh (phone: 412-648-8519). Currently, the fee for commercial testing through Molecular Diagnostics is $276.50 per person. Check with your insurance carrier to determine whether genetic testing is covered by your health plan. Testing can only be done in a laboratory licensed to perform this test. If testing is being done at other institutions within the United States, please call the 888- PITT DNA number to be sure that the site is approved.
Research testing is available for a reduced fee for those who qualify to be enrolled in the HP research study at the University of Pittsburgh. Research testing is confidential, requires the completion of several forms and questionnaires, but may be associated with a longer turnaround period to obtain results.
Genetic testing for any condition is a complex process. Genetic counsellors are available in your local area to help identify the potential risks, benefits, and limitations of genetic testing for HP. Referrals to local genetic counsellors can be obtained from your primary care physician. To find a genetic counsellor near you, ask your physician or call us for assistance at 888-PITT-DNA.
See the Genetic Consensus Statement published in Pancreatology 2001;1:405-415, through the Hereditary Pancreatitis Research Study office 888-PITT DNA, or on http://www.pancreas.org/
Before requesting HP genetic test results, we ask that each participant consider the possible benefits and limitations of genetic testing.
Identifying relatives at risk to develop HP
Once an HP mutation has been found in a family, other relatives can be tested to determine whether they inherited the same HP mutation. This type of testing, "pre-symptomatic testing," is conducted for individuals who have not yet developed pancreatitis but are at risk of having inherited an HP mutation from either parent. Individuals who test positive prior to developing symptoms of HP can then be educated about important lifestyle recommendations to reduce the risk of developing future pancreatic disease such as pancreatic cancer. Although pancreatitis cannot be prevented at this time, these individuals would be recommended to avoid the use of tobacco and alcoholic beverages, since these exposures are risk factors for pancreatic cancer in the general population.
Reducing feelings such as anxiety or uncertainty
Test results can often help reduce feelings of anxiety and uncertainty for individuals with a family history of HP. For example, an unaffected relative who receives negative test results (i.e. when a person is found NOT to carry an HP mutation) is likely to feel relieved from the uncertainty of whether symptoms will ever develop in the future. Note: negative test results only eliminate the risk to develop a hereditary form of pancreatitis. It is still possible to develop pancreatitis due to other causes later in life.4. Prenatal Genetic Testing. Genetic testing can provide information that is useful when making important reproductive decisions. Prenatal diagnosis is a form of testing that is conducted during pregnancy to determine whether a developing baby has inherited a specific mutation or other health problem. Currently prenatal testing is not being conducted. If both members of the couple have tested negative for a particular HP mutation, then the risk to pass on that HP mutation is essentially zero. For example, if your family is known to carry the R122H* mutation and you test negative for R122H*, then none of your children (or future pregnancies) would be at risk to develop HP.